Canonical Allele Identifier: CA913190414
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 619625
ClinVar RCV Id: RCV000758806
dbSNP Id: rs1567792876

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092417_43092418del , CM000679.2:g.43092417_43092418del GRCh38
NC_000017.10:g.41244434_41244435del , CM000679.1:g.41244434_41244435del GRCh37
NC_000017.9:g.38497960_38497961del NCBI36
NG_005905.2:g.125566_125567del , LRG_292:g.125566_125567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3177_3178del
ENST00000461574.2:c.3113_3114del ENSP00000417241.2:p.Glu1038GlyfsTer7
ENST00000470026.6:c.3113_3114del ENSP00000419274.2:p.Glu1038GlyfsTer7
ENST00000473961.6:c.2987_2988del ENSP00000420201.2:p.Glu996GlyfsTer7
ENST00000476777.6:c.3110_3111del ENSP00000417554.2:p.Glu1037GlyfsTer7
ENST00000477152.6:c.3035_3036del ENSP00000419988.2:p.Glu1012GlyfsTer7
ENST00000478531.6:c.785-1386_785-1385del ENSP00000420412.2:n.785-1386_785-1385del
ENST00000489037.2:c.3035_3036del ENSP00000420781.2:p.Glu1012GlyfsTer7
ENST00000493919.6:c.647-1386_647-1385del ENSP00000418819.2:n.647-1386_647-1385del
ENST00000494123.6:c.3113_3114del ENSP00000419103.2:p.Glu1038GlyfsTer7
ENST00000497488.2:c.2225_2226del ENSP00000418986.2:p.Glu742GlyfsTer7
ENST00000618469.2:c.3113_3114del ENSP00000478114.2:p.Glu1038GlyfsTer7
ENST00000634433.2:c.2990_2991del ENSP00000489431.2:p.Glu997GlyfsTer7
ENST00000644379.2:c.3113_3114del ENSP00000496570.2:p.Glu1038GlyfsTer7
ENST00000644555.2:c.647-1386_647-1385del ENSP00000494614.2:n.647-1386_647-1385del
ENST00000652672.2:c.2972_2973del ENSP00000498906.2:p.Glu991GlyfsTer7
ENST00000484087.6:c.665-1386_665-1385del ENSP00000419481.2:n.665-1386_665-1385del
ENST00000700182.1:c.707-1386_707-1385del ENSP00000514849.1:n.707-1386_707-1385del
ENST00000357654.9:c.3113_3114del MANE Select ENSP00000350283.3:p.Glu1038GlyfsTer7
ENST00000471181.7:c.3113_3114del ENSP00000418960.2:p.Glu1038GlyfsTer7
ENST00000352993.7:c.671-1386_671-1385del ENSP00000312236.5:n.671-1386_671-1385del
ENST00000354071.7:c.3113_3114del ENSP00000326002.7:p.Glu1038GlyfsTer7
ENST00000357654.7:c.3113_3114del ENSP00000350283.3:p.Glu1038GlyfsTer7
ENST00000461221.5:c.*2896_*2897del ENSP00000418548.1:n.*2896_*2897del
ENST00000468300.5:c.788-1386_788-1385del ENSP00000417148.1:n.788-1386_788-1385del
ENST00000471181.6:c.3113_3114del ENSP00000418960.2:p.Glu1038GlyfsTer7
ENST00000478531.5:c.785-1386_785-1385del ENSP00000420412.1:n.785-1386_785-1385del
ENST00000484087.5:c.410-1386_410-1385del ENSP00000419481.1:n.410-1386_410-1385del
ENST00000487825.5:c.413-1386_413-1385del ENSP00000418212.1:n.413-1386_413-1385del
ENST00000491747.6:c.788-1386_788-1385del ENSP00000420705.2:n.788-1386_788-1385del
ENST00000493795.5:c.2972_2973del ENSP00000418775.1:p.Glu991GlyfsTer7
ENST00000493919.5:c.647-1386_647-1385del ENSP00000418819.1:n.647-1386_647-1385del
ENST00000586385.5:c.5-28467_5-28466del ENSP00000465818.1:n.5-28467_5-28466del
ENST00000591534.5:c.-43-17897_-43-17896del ENSP00000467329.1:n.-43-17897_-43-17896del
ENST00000591849.5:c.-99+32853_-99+32854del ENSP00000465347.1:n.-99+32853_-99+32854del
NM_007294.3:c.3113_3114del , LRG_292t1:c.3113_3114del NP_009225.1:p.Glu1038GlyfsTer7
NM_007297.3:c.2972_2973del NP_009228.2:p.Glu991GlyfsTer7
NM_007298.3:c.788-1386_788-1385del NP_009229.2:n.788-1386_788-1385del
NM_007299.3:c.788-1386_788-1385del NP_009230.2:n.788-1386_788-1385del
NM_007300.3:c.3113_3114del NP_009231.2:p.Glu1038GlyfsTer7
NR_027676.1:n.3249_3250del
NM_007294.4:c.3113_3114del MANE Select NP_009225.1:p.Glu1038GlyfsTer7
NM_007297.4:c.2972_2973del NP_009228.2:p.Glu991GlyfsTer7
NM_007299.4:c.788-1386_788-1385del NP_009230.2:n.788-1386_788-1385del
NM_007300.4:c.3113_3114del NP_009231.2:p.Glu1038GlyfsTer7
NR_027676.2:n.3290_3291del